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Gene Symbol
PLEC
Assay Reference Genome
Location

Chr.8:143917576 on build GRCh38
Cytoband
8q24.3
Assay ID Hs02839708_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 5339

Gene Name:

 plectin

Gene Aliases:

 EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, PCN, PLEC1, PLEC1b, PLTN

Location:

 Chr.8:143915147-143976800 on Build GRCh38

Assay Gene Location:

 Within Exon 43
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PLEC NM_000445.4 33 12375 NP_000436.2
NM_201378.3 32 12260 NP_958780.1
NM_201379.2 32 12328 NP_958781.1
NM_201380.3 32 12826 NP_958782.1
NM_201381.2 32 12223 NP_958783.1
NM_201382.3 32 12313 NP_958784.1
NM_201383.2 32 12266 NP_958785.1
NM_201384.2 32 12374 NP_958786.1
XM_005250976.3 33 12868 XP_005251033.1
XM_005250978.3 33 12393 XP_005251035.1
XM_005250979.4 33 12352 XP_005251036.1
XM_005250980.4 33 12437 XP_005251037.1
XM_005250981.3 33 12274 XP_005251038.1
XM_005250982.3 33 12267 XP_005251039.1
XM_005250983.2 32 12191 XP_005251040.1
XM_005250984.4 33 12256 XP_005251041.1
XM_006716588.3 34 12445 XP_006716651.1
XM_006716589.2 33 12206 XP_006716652.1
XM_006716590.3 33 12316 XP_006716653.1
XM_011517130.2 33 12381 XP_011515432.1
XM_011517131.2 32 12300 XP_011515433.1
XM_011517132.2 32 9008 XP_011515434.1
AY480044.1 32 12332 AAR95677.1
AY480045.1 32 12203 AAR95678.1
AY480046.1 32 12328 AAR95679.1
AY480047.1 32 12826 AAR95680.1
AY480048.1 32 12223 AAR95681.1
AY480049.1 32 12252 AAR95682.1
AY480050.1 32 12266 AAR95683.1
AY480051.1 32 12374 AAR95684.1
BC007597.1 1 1691 AAH07597.1
U53204.1 33 12377 AAB05427.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv824795 Chr.8:143915993 - 143917638 on Build GRCh38 Gain PLEC
nsv470249 Chr.8:143889098 - 144519234 on Build GRCh38 Loss FBXL6 MIR6847 TONSL MIR7112 LRRC14 LOC101928953 PPP1R16A SLC39A4 VPS28 MIR6848 BOP1 EXOSC4 PARP10 CPSF1 GPAA1 MFSD3 SCRT1 CYHR1 OPLAH MIR6849 MAF1 TMEM249 GRINA RECQL4 MIR6893 LOC101928902 MIR661 HGH1 MIR939 DGAT1 GPT KIFC2 HSF1 CYC1 PLEC SCX SLC52A2 SPATC1 SHARPIN TONSL-AS1 FOXH1 WDR97 SMPD5 MIR6846 MROH1 MIR1234 ADCK5
nsv612903 Chr.8:143911032 - 143923759 on Build GRCh38 Loss PLEC
nsv515809 Chr.8:143904439 - 144519234 on Build GRCh38 Gain+Loss FBXL6 MIR6847 TONSL MIR7112 LRRC14 LOC101928953 PPP1R16A SLC39A4 VPS28 MIR6848 BOP1 EXOSC4 PARP10 CPSF1 GPAA1 MFSD3 SCRT1 CYHR1 OPLAH MIR6849 MAF1 TMEM249 GRINA RECQL4 MIR6893 LOC101928902 MIR661 HGH1 MIR939 DGAT1 GPT KIFC2 HSF1 CYC1 PLEC SCX SLC52A2 SPATC1 SHARPIN TONSL-AS1 FOXH1 WDR97 SMPD5 MIR6846 MROH1 MIR1234 ADCK5
nsv612904 Chr.8:143916360 - 143920044 on Build GRCh38 Loss PLEC
dgv12431n54 Chr.8:143845100 - 144161320 on Build GRCh38 Loss MIR661 HGH1 MIR6847 CYC1 PLEC EXOSC4 PARP10 EPPK1 SPATC1 SHARPIN GPAA1 WDR97 SMPD5 MIR6846 OPLAH MROH1 MAF1 GRINA
nsv950015 Chr.8:143866633 - 144125597 on Build GRCh38 Deletion MIR661 MIR6847 CYC1 PLEC EXOSC4 PARP10 EPPK1 SPATC1 SHARPIN GPAA1 WDR97 SMPD5 MIR6846 OPLAH MAF1 GRINA
nsv1161815 Chr.8:143775169 - 144080674 on Build GRCh38 Deletion MIR661 MIR937 MIR6847 NRBP2 PLEC EXOSC4 PARP10 EPPK1 SPATC1 PUF60 MIR6845 SMPD5 MIR6846 LOC642574 OPLAH SCRIB GRINA
nsv824793 Chr.8:143915958 - 143921572 on Build GRCh38 Gain PLEC
dgv12433n54 Chr.8:143902404 - 144120626 on Build GRCh38 Gain MIR661 MIR6847 CYC1 PLEC EXOSC4 PARP10 SPATC1 SHARPIN GPAA1 WDR97 SMPD5 MIR6846 OPLAH MAF1 GRINA

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